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rs587776751

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CAAGAA;CAAGAA) 0 common in clinvar
(TCTTG;TCTTG) 0 common in clinvar
Make rs587776751(-;-)
Make rs587776751(-;TCTTG)
ReferenceGRCh38 38.1/142
ChromosomeX
Position13716053
GeneOFD1, TRAPPC2
is asnp
is mentioned by
dbSNPrs587776751
ebirs587776751
HLIrs587776751
Exacrs587776751
Varsomers587776751
Maprs587776751
PheGenIrs587776751
hapmaprs587776751
1000 genomesrs587776751
hgdprs587776751
ensemblrs587776751
gopubmedrs587776751
geneviewrs587776751
scholarrs587776751
googlers587776751
pharmgkbrs587776751
gwascentralrs587776751
openSNPrs587776751
23andMers587776751
23andMe allrs587776751
SNP Nexus

SNPshotrs587776751
SNPdbers587776751
MSV3drs587776751
GWAS Ctlgrs587776751
Max Magnitude0
ClinVar
Risk rs587776751(TCTTGA,A;TCTTGA,A)
Alt rs587776751(TCTTGA,A;TCTTGA,A)
Reference rs587776751(CAAGAA;CAAGAA)
Significance Pathogenic
Disease Spondyloepiphyseal dysplasia tarda
Variation info
Gene TRAPPC2 OFD1
CLNDBN Spondyloepiphyseal dysplasia tarda
Reversed 1
HGVS NC_000023.10:g.13734172_13734176delTCTTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000128610.3,